Submissions for variant NM_003978.5(PSTPIP1):c.1144G>A (p.Ala382Thr)

dbSNP: rs145344175

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000375012	SCV000394017	benign	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000375012	SCV000642075	benign	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001718658	SCV000729587	likely benign	not provided	2021-05-06	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000375012	SCV000886019	benign	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	2021-09-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263006	SCV002542850	likely benign	Autoinflammatory syndrome	2021-02-18	criteria provided, single submitter	clinical testing